Variant: rs397516456 

    present in Gene: TNNT2
    present in Chromosome: 1
    Position on Chromosome: 201365298
    Alleles of this Variant: G/A

rs397516456 in TNNT2 gene and CARDIOMYOPATHY, DILATED, 1D (disorder) PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 22334656 2012 Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

PMID 26507537 2016 Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 14722098 2004 Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.

PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 9201030 1997 Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

rs397516456 in TNNT2 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 9201030 1997 Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 26507537 2016 Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 14722098 2004 Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 22334656 2012 Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

rs397516456 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 2 PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 9201030 1997 Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.

PMID 14722098 2004 Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 11034944 2000 Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 8989109 1996 Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 26507537 2016 Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 9482583 1998 A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

PMID 22334656 2012 Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

rs397516456 in TNNT2 gene and Cardiomyopathy, Hypertrophic, Familial PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 11560853 2001 Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.

PMID 11346248 2001 Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

rs397516456 in TNNT2 gene and Hypertrophic Cardiomyopathy PMID 18029407 2008 Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

PMID 11968089 2002 Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.

PMID 17612745 2008 Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

PMID 14722098 2004 Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.

PMID 16326803 2005 Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.

PMID 11606294 2001 Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 14640471 2003 Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features.

PMID 16115294 2005 Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.

PMID 22321274 2011 [Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].

PMID 20414521 2010 [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PMID 22334656 2012 Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

PMID 11560853 2001 Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.

PMID 23494605 2013 Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.

PMID 11346248 2001 Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 22579624 2012 Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.

PMID 19880069 2009 Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.